E77Q (p.Glu77Gln) variant of OPTN (Optineurin)
E77Q (p.Glu77Gln) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E77Q (p.Glu77Gln) variant details
- p.Glu77Gln
- gnomAD 10-13110336-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.42
- CADD 26.60
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available